Limb-girdle muscular dystrophy type 21 (LGMD21) is caused by mutations in the fukutin related protein gene (FKRP gene). The study examines and reports on clinical, biological and genetic characteristics of LGMD21.
Eleven patients from 9 non-consanguineous families living in the north of France were selected. The paper reports demographic data, results of muscular testing, cardiac and respiratory examination, the histopathology of muscle samples and a genetic analysis of the FKRP gene in each patient.
Six were women and 5 men; mean age at onset was 9.7 years. Six had a Duchenne-like and 5 a Becker-like phenotype. Nine patients suffered from restrictive respiratory failure, two men had severe dilated cardiomyopathy. Ten patients had the common L2761 mutation. Three heterozygous mutations associated with the one in L2761 were found that have not been previously identified - L322V, L489R and R275G.
This study emphasises inter- and intra-familial phenotypic variability in LGMD21, a preponderance of cardiomyopathy in men and restrictive respiratory insufficiency in women.
© 2007 Elsevier Masson SAS. Tous droits réservés.